CYP3A4 (Cytochrome P450 3A4) variants and mutations

CYP3A4 (also known as Cytochrome P450 3A4) is a human protein-coding gene encoding a cytochrome P450 3A4 protein. It performs oxidative metabolism for a remarkably large fraction of prescribed drugs in the intestine and liver. Enzyme induction, inhibition, disease state, and genetics can produce large changes in systemic drug exposure and drug-drug interactions. This analysis covers 753 CYP3A4 variants and mutations. Of these, 97% have computational variant effect predictions. Disease context includes HIV infectious disease, HIV-1 infection, and hepatitis C virus infection. Example CYP3A4 variants include A2D, A2G, and A2T.

Variant analysis overview

Variant and mutation evidence

Clinical, disease, and population context

Protein structure and variant hotspots

Data sources

Evidence in this analysis draws on EBI Proteins Variation, UniProt, gnomAD v4, EuropePMC, Interaction Network Analysis, Protein Data Bank, AlphaFold DB, gnomAD constraint, Open Targets, MaveDB, LitVar.

Notable CYP3A4 variants

Examples include A2D, A2G, A2T, A2V, L3P, L3V, I4T, P5S. Listed records include available protein-change notation, database identifiers, clinical classifications, computational predictions, population evidence, experimental measurements, and disease context.